"So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager"

Neuromuscular Disorders

Volumn 16, Issue 9-10, 2006, Pages 613-

  Beresford, Michael W ^a   Pourfarzam, Morteza ^b   Davidson, Joyce E ^a  

^a ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID;

ACIDURIA; ADOLESCENCE; GENE MUTATION; GLUTARIC ACIDURIA TYPE 2; LABORATORY; LETTER; MEDICAL INFORMATION; MEDICAL LITERATURE; MUSCLE WEAKNESS; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; PUBLICATION; TREATMENT OUTCOME;

ADOLESCENT; CONFIDENTIALITY; GLUTARATES; HUMANS; METABOLIC DISEASES; MOLECULAR BIOLOGY; MUSCULAR DISEASES; MUTATION; PERIODICALS; PERIODICALS AS TOPIC;

EID: 33748571891     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.07.003     Document Type: Letter

References (3)

1. Beresford M.W., Pourfarzam M., Turnbull D.M., and Davidson J.E. So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager. Neuromuscul Disord 16 4 (2006) 269-273 Epub 2006 Mar 9
2. Goodman S.I., Binard R.J., Woontner M.R., and Frerman F. Glutaric acidaemia type II: gene structure and mutations of the electron transfer protein:ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab 22 (2002) 86-90
3. Olsen R.K.J., Andresen B.S., Gregersen N., et al. The molecular basis of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. J Inherit Metab Dis 28 Suppl. 1 (2005) 116